Variant report

Variant	rs2964648
Chromosome Location	chr5:116043763-116043764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1000258	0.83[EUR][1000 genomes]
rs10037986	0.91[ASN][1000 genomes]
rs10038005	0.92[ASN][1000 genomes]
rs10043155	0.86[ASN][1000 genomes]
rs1027291	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1027292	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12516894	0.92[ASN][1000 genomes]
rs17140312	0.80[ASN][1000 genomes]
rs17140330	0.84[ASN][1000 genomes]
rs2087871	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2087873	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2131460	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2933593	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2933607	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2933608	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2933614	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2933627	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2933628	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2933630	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2933633	0.84[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964649	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2964653	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2964655	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2964657	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2964658	0.81[AMR][1000 genomes]
rs2964659	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2964698	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2964699	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2964701	0.85[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs2964702	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4512159	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4920860	0.92[ASN][1000 genomes]
rs4920925	0.81[ASN][1000 genomes]
rs4920926	0.83[ASN][1000 genomes]
rs4920927	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4920928	0.92[ASN][1000 genomes]
rs72663325	0.80[ASN][1000 genomes]
rs72663326	0.90[ASN][1000 genomes]
rs7711109	0.85[ASN][1000 genomes]
rs7728276	0.82[ASN][1000 genomes]
rs7728633	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763490	chr5:115918339-116138525	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830456	chr5:115969066-116170718	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv462403	chr5:115994775-116284378	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv599485	chr5:115994775-116284378	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1030056	chr5:116008971-116278725	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1033140	chr5:116035131-116314673	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116040800-116045400	Enhancers	GM12878-XiMat	blood
2	chr5:116041800-116044000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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